Congenital Disorder Of Glycosylation Iw
Disease ID: disease_node_20401
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| Dbxref | MIM:615596, ORDO:370921 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1w |
| Doid Label | congenital disorder of glycosylation Iw |
| Doid Description | A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20401 |
| Doid Id | DOID_0080572 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Iw |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)